### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FOXP2) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "FOXP2" "forkhead box P2" "7" "q31" "unknown" "NG_007491.3" "UD_132084483995" "" "https://www.LOVD.nl/FOXP2" "" "1" "13875" "93986" "605317" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/FOXP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-06-04 12:24:05" "00006" "2025-10-02 12:04:05" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00008112" "FOXP2" "transcript variant 1" "005" "NM_014491.3" "" "NP_055306.1" "" "" "" "-374" "5994" "2148" "114055052" "114333827" "" "0000-00-00 00:00:00" "" "" "00025409" "FOXP2" "transcript variant 2" "003" "NM_148898.3" "" "NP_683696.2" "" "" "" "-374" "6069" "2223" "114055052" "114333827" "00006" "2019-06-04 12:17:44" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02412" "SPCH" "speech-language disorder (SPCH)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-02-14 16:20:22" "05569" "SPCH1" "speech-language disorder, type 1 (SPCH-1)" "AD" "602081" "" "autosomal dominant" "" "00006" "2019-02-14 16:20:26" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FOXP2" "02412" "FOXP2" "05569" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00234408" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00238998" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00246627" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00294267" "" "" "" "43" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303354" "" "" "" "1" "" "00006" "Den Hoedt ESHG2020 C02.2, {PMID:Kaplanis 2020:33057194}, {PMID:Den Hoed 2021:33513338}, {DOI:Den Hoed 2021:10.1016/j.ajhg.2021.01.007}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat42" "00373714" "" "" "" "1" "" "01864" "" "" "F" "no" "China" "" "" "" "" "Chinese" "iw086" "00466418" "" "" "" "3" "" "03544" "2-generation family, 3 affected (proband, mother, brother)" "" "M" "-" "- (not applicable)" "" "0" "" "" "white" "" "00466852" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00234408" "00198" "00238998" "00198" "00246627" "00198" "00294267" "00198" "00303354" "05611" "00373714" "05569" "00466418" "05611" "00466852" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02412, 05569, 05611 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000174817" "00198" "00234408" "01807" "Unknown" "" "HP:0000750 (Delayed speech and language development)" "" "" "" "" "" "" "" "" "" "" "" "0000179283" "00198" "00238998" "01807" "Unknown" "" "HP:0002474 (Expressive language delay)" "" "" "" "" "" "" "" "" "" "" "" "0000186483" "00198" "00246627" "01807" "Unknown" "" "Cognitive impairment (HP:0100543); Language impairment (HP:0002463); Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000230431" "05611" "00303354" "00006" "Isolated (sporadic)" "08y09m" "see paper; ..., no abnormalities during pregnancy; normal delivery; birth term; mild intellectual disability; developmental delay, mild; motor delay, mild; speech delay, severe, 6y-no speech; no dysarthria; no epilepsy; 4m-mild, generalized hypotonia; no spasticity; no ataxia; MRI brain normal (infancy); no regression; no other neurological abnormalities; no facial dysmorphisms; no dental/oral abnormalities; no drooling, dysphagia; no hearing abnormalities; no vision abnormalities; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; hypermobility joints; mild constipation; no urogenital abnormalities; No; normal skin, normal hair, normal nails; no neoplasms" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000268939" "05569" "00373714" "01864" "Familial, autosomal dominant" "" "HP:0001252; HP:0001263; HP:0008070; HP:0000975; HP:0005968; HP:0012766" "" "" "" "" "" "" "" "" "Speech-language disorder-1 (OMIM 602081)" "" "" "0000351782" "05611" "00466418" "03544" "Familial" "" "HP:0001249, HP:0002474" "" "" "" "" "" "" "" "" "SPCH1" "complex NDD" "" "0000352215" "05611" "00466852" "03544" "Familial, autosomal dominant" "" "HP:0001263, HP:0002474, HP:0000750" "" "" "" "" "" "" "" "" "SPCH1" "complex NDD" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000235511" "00234408" "1" "01807" "01807" "2019-05-17 09:46:49" "" "" "SEQ" "DNA" "" "" "0000240103" "00238998" "1" "01807" "01807" "2019-05-30 15:47:00" "" "" "SEQ" "DNA" "" "" "0000247738" "00246627" "1" "01807" "01807" "2019-07-15 17:43:34" "" "" "SEQ" "DNA" "" "" "0000295435" "00294267" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304480" "00303354" "1" "00006" "00006" "2020-06-10 17:04:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374947" "00373714" "1" "01864" "01864" "2021-05-19 04:14:20" "" "" "SEQ-NG" "DNA" "blood" "WGS" "0000468081" "00466418" "1" "03544" "03544" "2025-08-29 09:48:18" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000468516" "00466852" "1" "03544" "03544" "2025-09-24 13:59:38" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000304480" "SATB1" "0000374947" "FOXP2" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 47 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000254287" "0" "30" "7" "114282610" "114282610" "subst" "0" "01943" "FOXP2_000005" "g.114282610A>G" "" "" "" "FOXP2(NM_148898.3):c.996A>G (p.A332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114642555A>G" "" "likely benign" "" "0000287867" "0" "10" "7" "114269985" "114269987" "del" "0" "01943" "FOXP2_000002" "g.114269985_114269987del" "" "" "" "FOXP2(NM_148898.3):c.597_599delACA (p.Q216del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114629930_114629932del" "" "benign" "" "0000331814" "0" "50" "7" "114066645" "114066645" "subst" "0" "01804" "FOXP2_000001" "g.114066645T>A" "" "" "" "FOXP2(NM_001172766.2):c.79T>A (p.(Leu27Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114426590T>A" "" "VUS" "" "0000331815" "0" "50" "7" "114271603" "114271605" "del" "0" "01804" "FOXP2_000003" "g.114271603_114271605del" "" "" "" "FOXP2(NM_001172766.2):c.598-6_598-4del (p.?), FOXP2(NM_148898.4):c.673-3_673-1delCAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114631548_114631550del" "" "VUS" "" "0000331816" "0" "50" "7" "114282609" "114282609" "subst" "1.2185E-5" "01804" "FOXP2_000004" "g.114282609C>T" "" "" "" "FOXP2(NM_001172766.2):c.917C>T (p.(Ala306Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114642554C>T" "" "VUS" "" "0000341074" "0" "50" "7" "114268621" "114268621" "subst" "0" "02327" "FOXP2_000009" "g.114268621T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114628566T>C" "" "VUS" "" "0000342822" "0" "70" "7" "114292289" "114292289" "subst" "0" "02327" "FOXP2_000012" "g.114292289C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114652234C>T" "" "likely pathogenic" "" "0000343869" "0" "50" "7" "114210912" "114210912" "subst" "0" "02327" "FOXP2_000008" "g.114210912T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114570857T>G" "" "VUS" "" "0000346697" "0" "50" "7" "114282635" "114282635" "subst" "5.6875E-5" "02327" "FOXP2_000011" "g.114282635A>G" "" "" "" "FOXP2(NM_148898.3):c.1021A>G (p.I341V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114642580A>G" "" "VUS" "" "0000478750" "0" "90" "7" "114299441" "114299441" "del" "0" "01807" "FOXP2_000013" "g.114299441del" "" "" "" "1499delA" "1499delA in which transcript, check original submission" "Unknown" "" "" "0" "" "" "g.114659386del" "" "pathogenic" "" "0000484101" "0" "70" "7" "114269967" "114269968" "del" "0" "01807" "FOXP2_000014" "g.114269967_114269968delinsTT" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.114629912_114629913delinsTT" "" "likely pathogenic" "" "0000500607" "0" "90" "7" "114270019" "114270019" "subst" "0" "01807" "FOXP2_000015" "g.114270019C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.114629964C>T" "" "pathogenic" "" "0000530438" "0" "70" "7" "114174759" "114174759" "subst" "0" "02327" "FOXP2_000016" "g.114174759C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114534704C>T" "" "likely pathogenic" "" "0000530440" "0" "30" "7" "114269674" "114269674" "subst" "5.38034E-6" "01804" "FOXP2_000018" "g.114269674T>A" "" "" "" "FOXP2(NM_148900.3):c.424T>A (p.(Phe142Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114629619T>A" "" "likely benign" "" "0000530441" "0" "90" "7" "114282473" "114282473" "del" "0" "02325" "FOXP2_000019" "g.114282473del" "" "" "" "FOXP2(NM_148898.4):c.859delA (p.S287Vfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114642418del" "" "pathogenic" "" "0000530442" "0" "30" "7" "114282573" "114282573" "subst" "0.000125919" "01804" "FOXP2_000020" "g.114282573A>G" "" "" "" "FOXP2(NM_001172766.2):c.881A>G (p.(Asn294Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114642518A>G" "" "likely benign" "" "0000530443" "0" "70" "7" "114298239" "114298239" "subst" "0" "02327" "FOXP2_000021" "g.114298239C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114658184C>G" "" "likely pathogenic" "" "0000530444" "0" "90" "7" "114298286" "114298286" "subst" "0" "01943" "FOXP2_000022" "g.114298286C>T" "" "" "" "FOXP2(NM_148898.3):c.1507C>T (p.R503*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114658231C>T" "" "pathogenic" "" "0000530445" "0" "50" "7" "114329933" "114329933" "subst" "7.3275E-5" "01943" "FOXP2_000023" "g.114329933A>T" "" "" "" "FOXP2(NM_014491.4):c.2100A>T (p.E700D), FOXP2(NM_148898.3):c.2175A>T (p.E725D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114689878A>T" "" "VUS" "" "0000610624" "0" "30" "7" "114271603" "114271605" "del" "0" "02325" "FOXP2_000003" "g.114271603_114271605del" "" "" "" "FOXP2(NM_001172766.2):c.598-6_598-4del (p.?), FOXP2(NM_148898.4):c.673-3_673-1delCAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114631548_114631550del" "" "likely benign" "" "0000610625" "0" "90" "7" "114292307" "114292307" "subst" "0" "02327" "FOXP2_000025" "g.114292307C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114652252C>T" "" "pathogenic" "" "0000652124" "1" "10" "7" "114333803" "114333803" "subst" "0.060791" "03575" "FOXP2_000026" "g.114333803C>T" "43/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "43 heterozygous, no homozygous; {DB:CLININrs10244649}" "Germline" "" "rs10244649" "0" "" "" "g.114693748C>T" "" "benign" "" "0000689863" "0" "30" "7" "114270015" "114270015" "subst" "0" "01943" "FOXP2_000027" "g.114270015A>G" "" "" "" "FOXP2(NM_148898.3):c.627A>G (p.Q209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689864" "0" "50" "7" "114282635" "114282635" "subst" "5.6875E-5" "01943" "FOXP2_000011" "g.114282635A>G" "" "" "" "FOXP2(NM_148898.3):c.1021A>G (p.I341V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689865" "0" "50" "7" "114284850" "114284850" "subst" "0" "01943" "FOXP2_000028" "g.114284850T>A" "" "" "" "FOXP2(NM_148898.3):c.1169+6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689866" "0" "30" "7" "114298326" "114298326" "subst" "0" "02325" "FOXP2_000029" "g.114298326G>C" "" "" "" "FOXP2(NM_014491.4):c.1468+4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721190" "0" "90" "7" "114268625" "114268625" "dup" "0" "02329" "FOXP2_000024" "g.114268625dup" "" "" "" "FOXP2(NM_148898.4):c.364dupC (p.Q122Pfs*169)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721191" "0" "90" "7" "114284841" "114284841" "subst" "0" "02325" "FOXP2_000030" "g.114284841T>G" "" "" "" "FOXP2(NM_014491.4):c.1091T>G (p.L364*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721192" "0" "30" "7" "114302194" "114302194" "subst" "0.000195244" "01943" "FOXP2_000031" "g.114302194T>C" "" "" "" "FOXP2(NM_148898.3):c.1797T>C (p.T599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721193" "0" "50" "7" "114304332" "114304332" "subst" "0" "01943" "FOXP2_000032" "g.114304332C>T" "" "" "" "FOXP2(NM_148898.3):c.1919C>T (p.A640V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763512" "0" "70" "7" "0" "0" "" "0" "00006" "FOXP2_000033" "g.(?_114269870)_(114288844_)dup" "" "{PMID:Kaplanis 2020:33057194}, {PMID:Den Hoed 2021:33513338}, {DOI:Den Hoed 2021:10.1016/j.ajhg.2021.01.007}" "" "" "variant likely causative of phenotype" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000785859" "0" "90" "7" "114296167" "114300834" "delins" "0" "01864" "FOXP2_000034" "g.114296167_114300834delinsCATTGTAAACATGAGGGCCATACATTTAAA" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.114656112_114660779delinsCATTGTAAACATGAGGGCCATACATTTAAA" "" "pathogenic (dominant)" "ACMG" "0000802851" "0" "70" "7" "114299455" "114299455" "subst" "0" "02327" "FOXP2_000035" "g.114299455C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000802852" "0" "90" "7" "114299676" "114299676" "del" "0" "02327" "FOXP2_000036" "g.114299676del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912617" "0" "50" "7" "114304485" "114304485" "subst" "1.63059E-5" "02325" "FOXP2_000037" "g.114304485C>T" "" "" "" "FOXP2(NM_014491.4):c.1997C>T (p.P666L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929266" "0" "50" "7" "114304449" "114304449" "subst" "0" "02325" "FOXP2_000038" "g.114304449G>A" "" "" "" "FOXP2(NM_014491.4):c.1961G>A (p.S654N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948801" "0" "30" "7" "114329933" "114329933" "subst" "7.3275E-5" "02325" "FOXP2_000023" "g.114329933A>T" "" "" "" "FOXP2(NM_014491.4):c.2100A>T (p.E700D), FOXP2(NM_148898.3):c.2175A>T (p.E725D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977468" "0" "50" "7" "114271680" "114271680" "subst" "0" "02325" "FOXP2_000039" "g.114271680A>G" "" "" "" "FOXP2(NM_014491.4):c.695A>G (p.H232R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996138" "0" "30" "7" "114329908" "114329908" "subst" "0" "01804" "FOXP2_000040" "g.114329908C>T" "" "" "" "FOXP2(NM_001172766.2):c.2072C>T (p.(Pro691Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996139" "0" "50" "7" "114329974" "114329974" "subst" "8.13895E-6" "01804" "FOXP2_000041" "g.114329974T>C" "" "" "" "FOXP2(NM_014491.3):c.2141T>C (p.(Leu714Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014258" "0" "30" "7" "114066636" "114066636" "subst" "7.77071E-5" "02325" "FOXP2_000042" "g.114066636A>G" "" "" "" "FOXP2(NM_014491.4):c.70A>G (p.S24G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014259" "0" "30" "7" "114269964" "114269978" "del" "0" "02325" "FOXP2_000043" "g.114269964_114269978del" "" "" "" "FOXP2(NM_014491.4):c.501_515delGCAGCAGCAACAACA (p.Q187_Q191del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014260" "0" "50" "7" "114299492" "114299492" "subst" "0" "02325" "FOXP2_000044" "g.114299492G>A" "" "" "" "FOXP2(NM_014491.4):c.1545+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036072" "0" "30" "7" "114271600" "114271605" "dup" "0" "01804" "FOXP2_000045" "g.114271600_114271605dup" "" "" "" "FOXP2(NM_014491.4):c.615_620dup (p.(Gln208_Gln209dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036073" "0" "70" "7" "114284805" "114284805" "subst" "0" "01804" "FOXP2_000046" "g.114284805G>T" "" "" "" "FOXP2(NM_014491.4):c.1055G>T (p.(Gly352Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001047562" "21" "70" "7" "114269998" "114269998" "subst" "0" "03544" "FOXP2_000047" "g.114269998C>T" "" "" "" "" "detected in mother and brother with expressive language delay" "Germline" "yes" "rs1003245699" "0" "" "" "NC_000007.14:g.114629943C>T" "" "likely pathogenic" "ACMG" "0001048358" "0" "70" "7" "114298291" "114298298" "del" "0" "03544" "FOXP2_000048" "g.114298291_114298298del" "" "" "" "" "likely familial inheritance (mother and maternal relatives with speech delay, but not tested)" "Germline" "-" "" "0" "" "" "g.114658236_114658243del" "{CV:4087711}" "likely pathogenic" "ACMG" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FOXP2 ## Count = 91 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000254287" "00025409" "30" "996" "0" "996" "0" "c.996A>G" "r.(?)" "p.(Ala332=)" "" "0000254287" "00008112" "30" "921" "0" "921" "0" "c.921A>G" "r.(?)" "p.(Ala307=)" "" "0000287867" "00025409" "10" "597" "0" "599" "0" "c.597_599del" "r.(?)" "p.(Gln216del)" "" "0000287867" "00008112" "10" "522" "0" "524" "0" "c.522_524del" "r.(?)" "p.(Gln191del)" "" "0000331814" "00025409" "50" "79" "0" "79" "0" "c.79T>A" "r.(?)" "p.(Leu27Ile)" "" "0000331814" "00008112" "50" "79" "0" "79" "0" "c.79T>A" "r.(?)" "p.(Leu27Ile)" "" "0000331815" "00025409" "50" "693" "0" "695" "0" "c.693_695del" "r.(?)" "p.(Gln234del)" "" "0000331815" "00008112" "50" "618" "0" "620" "0" "c.618_620del" "r.(?)" "p.(Gln209del)" "" "0000331816" "00025409" "50" "995" "0" "995" "0" "c.995C>T" "r.(?)" "p.(Ala332Val)" "" "0000331816" "00008112" "50" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Ala307Val)" "" "0000341074" "00025409" "50" "360" "0" "360" "0" "c.360T>C" "r.(?)" "p.(Thr120=)" "" "0000341074" "00008112" "50" "285" "0" "285" "0" "c.285T>C" "r.(?)" "p.(Thr95=)" "" "0000342822" "00025409" "70" "1201" "0" "1201" "0" "c.1201C>T" "r.(?)" "p.(Arg401Ter)" "" "0000342822" "00008112" "70" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376Ter)" "" "0000343869" "00025409" "50" "309" "0" "309" "0" "c.309T>G" "r.(?)" "p.(Asp103Glu)" "" "0000343869" "00008112" "50" "258" "36151" "258" "36151" "c.258+36151T>G" "r.(=)" "p.(=)" "" "0000346697" "00025409" "50" "1021" "0" "1021" "0" "c.1021A>G" "r.(?)" "p.(Ile341Val)" "" "0000346697" "00008112" "50" "946" "0" "946" "0" "c.946A>G" "r.(?)" "p.(Ile316Val)" "" "0000478750" "00025409" "90" "1574" "0" "1574" "0" "c.1574del" "r.(?)" "p.(Asn525Metfs*14)" "" "0000478750" "00008112" "90" "1499" "0" "1499" "0" "c.1499del" "r.(?)" "p.(Asn500Metfs*14)" "" "0000484101" "00025409" "70" "579" "0" "580" "0" "c.579_580delinsTT" "r.(?)" "p.(Gln194*)" "" "0000484101" "00008112" "70" "504" "0" "505" "0" "c.504_505delinsTT" "r.(?)" "p.(Gln169*)" "" "0000500607" "00025409" "90" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Gln211*)" "" "0000500607" "00008112" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Gln186*)" "" "0000530438" "00025409" "70" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Gln86Ter)" "" "0000530438" "00008112" "70" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Gln86Ter)" "" "0000530440" "00025409" "30" "472" "-186" "472" "-186" "c.472-186T>A" "r.(=)" "p.(=)" "" "0000530440" "00008112" "30" "397" "-186" "397" "-186" "c.397-186T>A" "r.(=)" "p.(=)" "" "0000530441" "00025409" "90" "859" "0" "859" "0" "c.859del" "r.(?)" "p.(Ser287ValfsTer12)" "" "0000530441" "00008112" "90" "784" "0" "784" "0" "c.784del" "r.(?)" "p.(Ser262ValfsTer12)" "" "0000530442" "00025409" "30" "959" "0" "959" "0" "c.959A>G" "r.(?)" "p.(Asn320Ser)" "" "0000530442" "00008112" "30" "884" "0" "884" "0" "c.884A>G" "r.(?)" "p.(Asn295Ser)" "" "0000530443" "00025409" "70" "1460" "0" "1460" "0" "c.1460C>G" "r.(?)" "p.(Ser487Ter)" "" "0000530443" "00008112" "70" "1385" "0" "1385" "0" "c.1385C>G" "r.(?)" "p.(Ser462Ter)" "" "0000530444" "00025409" "90" "1507" "0" "1507" "0" "c.1507C>T" "r.(?)" "p.(Arg503Ter)" "" "0000530444" "00008112" "90" "1432" "0" "1432" "0" "c.1432C>T" "r.(?)" "p.(Arg478Ter)" "" "0000530445" "00025409" "50" "2175" "0" "2175" "0" "c.2175A>T" "r.(?)" "p.(Glu725Asp)" "" "0000530445" "00008112" "50" "2100" "0" "2100" "0" "c.2100A>T" "r.(?)" "p.(Glu700Asp)" "" "0000610624" "00025409" "30" "693" "0" "695" "0" "c.693_695del" "r.(?)" "p.(Gln234del)" "" "0000610624" "00008112" "30" "618" "0" "620" "0" "c.618_620del" "r.(?)" "p.(Gln209del)" "" "0000610625" "00025409" "90" "1219" "0" "1219" "0" "c.1219C>T" "r.(?)" "p.(Arg407Ter)" "" "0000610625" "00008112" "90" "1144" "0" "1144" "0" "c.1144C>T" "r.(?)" "p.(Arg382Ter)" "" "0000652124" "00025409" "10" "6045" "0" "6045" "0" "c.*3822C>T" "r.(=)" "p.(=)" "" "0000652124" "00008112" "10" "5970" "0" "5970" "0" "c.*3822C>T" "r.(=)" "p.(=)" "" "0000689863" "00025409" "30" "627" "0" "627" "0" "c.627A>G" "r.(?)" "p.(Gln209=)" "" "0000689863" "00008112" "30" "552" "0" "552" "0" "c.552A>G" "r.(?)" "p.(Gln184=)" "" "0000689864" "00025409" "50" "1021" "0" "1021" "0" "c.1021A>G" "r.(?)" "p.(Ile341Val)" "" "0000689864" "00008112" "50" "946" "0" "946" "0" "c.946A>G" "r.(?)" "p.(Ile316Val)" "" "0000689865" "00025409" "50" "1169" "6" "1169" "6" "c.1169+6T>A" "r.(=)" "p.(=)" "" "0000689865" "00008112" "50" "1094" "6" "1094" "6" "c.1094+6T>A" "r.(=)" "p.(=)" "" "0000689866" "00025409" "30" "1543" "4" "1543" "4" "c.1543+4G>C" "r.spl?" "p.?" "" "0000689866" "00008112" "30" "1468" "4" "1468" "4" "c.1468+4G>C" "r.spl?" "p.?" "" "0000721190" "00025409" "90" "364" "0" "364" "0" "c.364dup" "r.(?)" "p.(Gln122ProfsTer169)" "" "0000721190" "00008112" "90" "289" "0" "289" "0" "c.289dup" "r.(?)" "p.(Gln97ProfsTer169)" "" "0000721191" "00025409" "90" "1166" "0" "1166" "0" "c.1166T>G" "r.(?)" "p.(Leu389*)" "" "0000721191" "00008112" "90" "1091" "0" "1091" "0" "c.1091T>G" "r.(?)" "p.(Leu364*)" "" "0000721192" "00025409" "30" "1797" "0" "1797" "0" "c.1797T>C" "r.(?)" "p.(Thr599=)" "" "0000721192" "00008112" "30" "1722" "0" "1722" "0" "c.1722T>C" "r.(?)" "p.(Thr574=)" "" "0000721193" "00025409" "50" "1919" "0" "1919" "0" "c.1919C>T" "r.(?)" "p.(Ala640Val)" "" "0000721193" "00008112" "50" "1844" "0" "1844" "0" "c.1844C>T" "r.(?)" "p.(Ala615Val)" "" "0000763512" "00025409" "70" "482" "0" "1170" "-3414" "c.(?_482)_(1170-3414_?)dup" "r.?" "p.?" "6i_9i" "0000763512" "00008112" "70" "407" "0" "1095" "-3414" "c.(?_407)_(1095-3414_?)dup" "r.?" "p.?" "" "0000785859" "00025409" "90" "1342" "-1954" "1722" "1106" "c.1342-1954_1722+1106delinsCATTGTAAACATGAGGGCCATACATTTAAA" "r.?" "p.?" "12-14" "0000802851" "00025409" "70" "1588" "0" "1588" "0" "c.1588C>A" "r.(?)" "p.(Pro530Thr)" "" "0000802851" "00008112" "70" "1513" "0" "1513" "0" "c.1513C>A" "r.(?)" "p.(Pro505Thr)" "" "0000802852" "00025409" "90" "1670" "0" "1670" "0" "c.1670del" "r.(?)" "p.(Ser557Thrfs*34)" "" "0000802852" "00008112" "90" "1595" "0" "1595" "0" "c.1595del" "r.(?)" "p.(Ser532Thrfs*34)" "" "0000912617" "00025409" "50" "2072" "0" "2072" "0" "c.2072C>T" "r.(?)" "p.(Pro691Leu)" "" "0000912617" "00008112" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Pro666Leu)" "" "0000929266" "00025409" "50" "2036" "0" "2036" "0" "c.2036G>A" "r.(?)" "p.(Ser679Asn)" "" "0000929266" "00008112" "50" "1961" "0" "1961" "0" "c.1961G>A" "r.(?)" "p.(Ser654Asn)" "" "0000948801" "00025409" "30" "2175" "0" "2175" "0" "c.2175A>T" "r.(?)" "p.(Glu725Asp)" "" "0000948801" "00008112" "30" "2100" "0" "2100" "0" "c.2100A>T" "r.(?)" "p.(Glu700Asp)" "" "0000977468" "00025409" "50" "770" "0" "770" "0" "c.770A>G" "r.(?)" "p.(His257Arg)" "" "0000977468" "00008112" "50" "695" "0" "695" "0" "c.695A>G" "r.(?)" "p.(His232Arg)" "" "0000996138" "00025409" "30" "2150" "0" "2150" "0" "c.2150C>T" "r.(?)" "p.(Thr717Ile)" "" "0000996138" "00008112" "30" "2075" "0" "2075" "0" "c.2075C>T" "r.(?)" "p.(Thr692Ile)" "" "0000996139" "00025409" "50" "2216" "0" "2216" "0" "c.2216T>C" "r.(?)" "p.(Leu739Pro)" "" "0000996139" "00008112" "50" "2141" "0" "2141" "0" "c.2141T>C" "r.(?)" "p.(Leu714Pro)" "" "0001014258" "00025409" "30" "70" "0" "70" "0" "c.70A>G" "r.(?)" "p.(Ser24Gly)" "" "0001014258" "00008112" "30" "70" "0" "70" "0" "c.70A>G" "r.(?)" "p.(Ser24Gly)" "" "0001014259" "00025409" "30" "576" "0" "590" "0" "c.576_590del" "r.(?)" "p.(Gln212_Gln216del)" "" "0001014259" "00008112" "30" "501" "0" "515" "0" "c.501_515del" "r.(?)" "p.(Gln187_Gln191del)" "" "0001014260" "00025409" "50" "1620" "5" "1620" "5" "c.1620+5G>A" "r.spl?" "p.?" "" "0001014260" "00008112" "50" "1545" "5" "1545" "5" "c.1545+5G>A" "r.spl?" "p.?" "" "0001036072" "00025409" "30" "690" "0" "695" "0" "c.690_695dup" "r.(?)" "p.(Gln233_Gln234dup)" "" "0001036072" "00008112" "30" "615" "0" "620" "0" "c.615_620dup" "r.(?)" "p.(Gln208_Gln209dup)" "" "0001036073" "00025409" "70" "1130" "0" "1130" "0" "c.1130G>T" "r.(?)" "p.(Gly377Val)" "" "0001036073" "00008112" "70" "1055" "0" "1055" "0" "c.1055G>T" "r.(?)" "p.(Gly352Val)" "" "0001047562" "00008112" "70" "535" "0" "535" "0" "c.535C>T" "r.(535C>T)" "p.(Gln179*)" "5" "0001048358" "00008112" "70" "1437" "0" "1444" "0" "c.1437_1444del" "r.(?)" "p.(His479Glnfs*15)" "11" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000235511" "0000478750" "0000240103" "0000484101" "0000247738" "0000500607" "0000295435" "0000652124" "0000304480" "0000763512" "0000374947" "0000785859" "0000468081" "0001047562" "0000468516" "0001048358"